Risk management decisions in women with BRCA1 and BRCA2 mutations - 25/04/18
Abstract |
Introduction |
Pathogenic mutations and variants of uncertain significance (VUS) occur in BRCA1/2 genes.
Methods |
Records of women with a pathogenic mutation or VUS in BRCA1/2 treated between 2008 and 2017 were reviewed.
Results |
One hundred and ten women were included. Mean age was 47. A pathogenic mutation or a VUS in BRCA1/2 was detected in 85 (77%) and 25 (23%) patients, respectively. The rate of risk reducing mastectomy (RRM) was 50% in women with a pathogenic mutation and 30% in women with a VUS (P = 0.232). Among women with breast cancer, 65% with a pathogenic mutation and 40% with a VUS underwent RRM. Over 50% of women with a pathogenic mutation in BRCA1/2 chose surveillance over operation.
Discussion |
There was no statistical difference in the rate of RRM among women with a pathogenic mutation or a VUS in BRCA1/2 in our population. The majority of high risk women in our study chose to forgo RRM for breast cancer screening.
El texto completo de este artículo está disponible en PDF.Highlights |
• | Majority of women with BRCA1/2 mutation chose surveillance over risk reducing mastectomy. |
• | Rate of risk reducing mastectomy was similar among women with pathogenic BRCA1/2 mutation and VUS. |
• | No woman with VUS underwent risk reducing mastectomy in the absence of breast cancer. |
Keywords : Breast cancer, Genetic testing, BRCA, Variants of uncertain significance
Esquema
Vol 215 - N° 5
P. 899-903 - mai 2018 Regresar al número
Artículo precedente
- Discussion of “Use of integrative services is associated with maintenance of work schedule during and after cancer treatment”
- Karen L. Kwong
- Discussion of “Risk management decisions in women with BRCA1 and BRCA2 mutations”
- Mia DeBarros
Bienvenido a EM-consulte, la referencia de los profesionales de la salud.
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